ANGEL1 Gene
ANGEL1: Angel Homolog 1 – A Conserved Gene with Potential Roles in RNA Metabolism and Cellular Stress Response
Gene Information Card
| Symbol | ANGEL1 |
|---|---|
| Full Name | Angel Homolog 1 (Drosophila) |
| Gene Type | Protein-coding |
| Chromosomal Location | 14q24.3 |
| NCBI Gene ID | 23357 ncbi.nlm.nih.gov/gene/23357 |
| Ensembl ID | ENSG00000100823 |
| UniProt ID | Q9BZ25 |
| OMIM ID | 618849 |
| HGNC ID | 19973 |
| Aliases | ANGEL, C14orf139, FLJ10305 |
Description
ANGEL1 (Angel Homolog 1) is a protein-coding gene located on chromosome 14q24.3. It encodes a protein that contains a CCCH-type zinc finger domain and is predicted to be involved in RNA binding and post-transcriptional regulation. The gene is evolutionarily conserved and expressed in multiple tissues, with potential roles in cellular stress responses and RNA metabolism. Limited functional studies suggest involvement in cell proliferation and differentiation.
Disease Associations
| Disease category | Pathophysiological mechanism | Genomic evidence |
|---|---|---|
| No curated disease associations | Not established | No direct evidence from ClinVar, OMIM, or COSMIC |
Expression Profile
Tissue Expression
| Tissue | nTPM | level |
|---|---|---|
| Testis | 12.3 | Medium |
| Brain (cerebellum) | 8.1 | Low |
| Heart | 6.5 | Low |
| Liver | 4.2 | Low |
| Kidney | 5.0 | Low |
Cell Line Expression
| Cell Line | nTPM | Notes |
|---|---|---|
| HEK 293 | 10.5 | Moderate expression |
| HeLa | 7.8 | Low expression |
| K562 | 6.1 | Low expression |
| HepG2 | 5.3 | Low expression |
Data source：Human Protein Atlas（proteinatlas.org）
Mutations & Variants
Hotspot Mutations
| Variant | Type | Frequency | Functional Description |
|---|---|---|---|
| No pathogenic variants reported | N/A | N/A | N/A |
Mutation functional classification
Loss of Function (LOF)
No loss-of-function mutations documented in ClinVar or COSMIC.
Gain of Function (GOF)
No gain-of-function mutations documented.
Dominant Negative (DN)
No dominant-negative mutations documented.
View complete mutation data：
Gene Ontology (GO)
| • RNA binding (GO:0003723) | • Zinc ion binding (GO:0008270) |
| • Cytoplasm (GO:0005737) | • Nucleus (GO:0005634) |
Pathways
• No curated pathways in Reactome or KEGG
Protein Summary
The ANGEL1 protein (UniProt Q9BZ25) is 364 amino acids long and contains a CCCH-type zinc finger domain, suggesting RNA-binding capability. It is localized to both the cytoplasm and nucleus. The protein is predicted to play a role in post-transcriptional regulation, possibly in response to cellular stress. Orthologs in Drosophila (Angel) are involved in germline development and RNA metabolism.
Related Services
Related Products
| Product name | Cat.No. | Species | Gene ID | |
|---|---|---|---|---|
| ANGEL1 Knockout HEK293 Cell Line | EDJ-KQ7986 | Human | 23357 | Details Get a Quote |
| ANGEL1 Knockout A-549 Cell Line | EDJ-KQ33705 | Human | 23357 | Details Get a Quote |
| ANGEL1 Knockout HCT 116 Cell Line | EDJ-KQ33706 | Human | 23357 | Details Get a Quote |
| ANGEL1 Knockout HeLa Cell Line | EDJ-KQ33707 | Human | 23357 | Details Get a Quote |
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